Chromosomal mutation
Point mutations
DNA mutation
Effects
Random
100

What is the difference between chromosomal mutations and gene mutations?

Chromosomal mutations affect large segments of DNA or whole chromosomes, while gene mutations affect a single gene or small DNA sequence.

100

Changes in _______ result in point mutations

DNA, gene,

100

Mutagens_____________

cause mutations

100
A nonsense mutation effects the amino acids because
What is early stop sign
100
Mutations in ___________ cannot be passed down
What is somatic or body
200

How does aneuploidy differ from polyploidy?

  • Aneuploidy: abnormal number of single chromosomes.

  • Polyploidy: extra complete sets of chromosomes.

200

Why are frameshift mutations often more damaging than missense mutations?

They change all downstream codons, potentially producing a nonfunctional protein.

200
When base pairs are added this mutation results
What is insertion
200
When chromosomes fail to separate the term is called
What is nondisjunction
200

Cats cry syndrome is caused


by the deletion on arm on chromosome 5

300
When one piece of chromosome is inserted with a piece of another chromosome the result is called
What is insertion mutation
300
Changes in DNA result in different mRNA sequence which alters the ___________ ____________.
What is amino acids.
300
When amino acids do not get altered when there is a mutation it is said to be
What is silent
300
The DNA mutation resulting in thick mucus, lower life expectancy, and problems with the pancreas.
What is cystic fibrosis
300

If a human has a double trisomy how many chromosomes do they have

What is 48

400

A person with monosomy has_____ chromosomes

45

400
A mutation in which there is a premature (early) stop sign is called
What is nonsense mutation.
400
Mutations in __________ cells can be passed down
What is germ (or egg/sperm)
400
Abnormal cell growth can result from mutations..this is called
What is cancer
400

What is missense mutation

When amino acid is altered

500

When someone has an extra set of chromosomes that mutation is called

euploidy
500

  • CAG trinucleotide repetition

  • Consequence: Progressive brain degeneration → movement problems, psychiatric symptoms, cognitive decline.

HUntingtons

500

Why is trisomy of chromosome 21 viable while trisomy of most other autosomes is lethal?

Chromosome 21 is small with fewer genes; extra copies are tolerated better than larger autosomes with more essential genes.

500
If someone only has one chromosome on the specific number (instead of a pair they only have one) it is called
What is monosomy
500

Man with extra X chromosome are said to have __________ syndrome

Klinefelter syndrome

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